This disease is characterized by kidney stone fomation due to increased renal excretion of the amino acid cystein. The stones are made of cystine.
The Cystinurie is one of the most frequent hereditary diseases.The frequency is indicated in our population as 1:7000.
The Cystinuria can be mesured in quantitatively. Kidney stones should be investigated. If there something indicates for cystinuria a genetic test can be performed.
The filtered amino acid could not be reabsorbed adequately because of a defect in the transporter of dibasic amino acids.
Cystein crystals show the typical form of a hexagon (benzene ring) of pale yellow color.
|Nephrolithiasis diarrhea syndrome|
|Susceptibility to nephrolithiasis|
|Uric acid nephropathy|
de Sanctis L et al. (2001) Cystinuria phenotyping by oral lysine and arginine loading.
Schmidt C et al. (2003) Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
Rosenberg LE et al. (1966) Cystinuria: biochemical evidence for three genetically distinct diseases.
OMIM.ORG articleOmim 220100
Orphanet articleOrphanet ID 214
Wikipedia articleWikipedia EN (Cystinuria)